SMAD5:Ensemblv90

SMAD family member 5
OMIM: 603110, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SMAD5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart disease, MONDO:0005453, SMAD5-related

Green SMAD5 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart disease, MONDO:0005453, SMAD5-related

Green SMAD5 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart disease, MONDO:0005453, SMAD5-related

Green SMAD5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital heart disease, MONDO:0005453, SMAD5-related

Green SMAD5 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital heart disease, MONDO:0005453, SMAD5-related